Peroxisome biogenesis disorder 5A (Zellweger)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (77 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Flat face
Flat face
- MedGen UID: 342829
- Concept ID: C1853241
- Finding: Finding
Abnormality of head or neck
- High forehead
High forehead
- MedGen UID: 65991
- Concept ID: C0239676
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Palpebral edema
Palpebral edema
- MedGen UID: 57877
- Concept ID: C0162285
- Finding: Pathologic Function
Abnormality of head or neck
- Round face
Round face
- MedGen UID: 116087
- Concept ID: C0239479
- Finding: Finding
Abnormality of head or neck
- Cleft palate
- Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Cubitus valgus
Cubitus valgus
- MedGen UID: 490152
- Concept ID: C0158465
- Finding: Acquired Abnormality
Abnormality of limbs
- Metatarsus adductus
Metatarsus adductus
- MedGen UID: 898667
- Concept ID: C4082169
- Finding: Anatomical Abnormality
Abnormality of limbs
- Single transverse palmar crease
Single transverse palmar crease
- MedGen UID: 96108
- Concept ID: C0424731
- Finding: Finding
Abnormality of limbs
- Clubfoot
- Abnormality of metabolism/homeostasis
- Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia
- MedGen UID: 82787
- Concept ID: C0268307
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Elevated circulating alanine aminotransferase concentration
Elevated circulating alanine aminotransferase concentration
- MedGen UID: 57740
- Concept ID: C0151905
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating alkaline phosphatase concentration
Elevated circulating alkaline phosphatase concentration
- MedGen UID: 727252
- Concept ID: C1314665
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating aspartate aminotransferase concentration
Elevated circulating aspartate aminotransferase concentration
- MedGen UID: 57497
- Concept ID: C0151904
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating phytanic acid concentration
Elevated circulating phytanic acid concentration
- MedGen UID: 869360
- Concept ID: C4023786
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated gamma-glutamyltransferase level
Elevated gamma-glutamyltransferase level
- MedGen UID: 1370086
- Concept ID: C4476869
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating lactate dehydrogenase concentration
Increased circulating lactate dehydrogenase concentration
- MedGen UID: 1377250
- Concept ID: C4477095
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating very long-chain fatty acid concentration
Increased circulating very long-chain fatty acid concentration
- MedGen UID: 1788690
- Concept ID: C5539740
- Finding: Finding
Abnormality of metabolism/homeostasis
- Conjugated hyperbilirubinemia
- Abnormality of prenatal development or birth
- Fetal distress
Fetal distress
- MedGen UID: 5164
- Concept ID: C0015930
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Fetal distress
- Abnormality of the breast
- Hypoplastic nipples
Hypoplastic nipples
- MedGen UID: 98156
- Concept ID: C0432355
- Finding: Congenital Abnormality
Abnormality of the breast
- Hypoplastic nipples
- Abnormality of the cardiovascular system
- Aortic regurgitation
Aortic regurgitation
- MedGen UID: 8153
- Concept ID: C0003504
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Atrial septal defect
Atrial septal defect
- MedGen UID: 6753
- Concept ID: C0018817
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Heart murmur
Heart murmur
- MedGen UID: 9171
- Concept ID: C0018808
- Finding: Finding
Abnormality of the cardiovascular system
- Mitral regurgitation
Mitral regurgitation
- MedGen UID: 7670
- Concept ID: C0026266
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Tricuspid regurgitation
Tricuspid regurgitation
- MedGen UID: 11911
- Concept ID: C0040961
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Aortic regurgitation
- Abnormality of the digestive system
- Cholestasis
Cholestasis
- MedGen UID: 925
- Concept ID: C0008370
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Feeding difficulties in infancy
Feeding difficulties in infancy
- MedGen UID: 436211
- Concept ID: C2674608
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Hepatosplenomegaly
Hepatosplenomegaly
- MedGen UID: 9225
- Concept ID: C0019214
- Finding: Sign or Symptom
Abnormality of the digestive system
- Intrahepatic biliary dysgenesis
Intrahepatic biliary dysgenesis
- MedGen UID: 347107
- Concept ID: C1859235
- Finding: Finding
Abnormality of the digestive system
- Jaundice
Jaundice
- MedGen UID: 43987
- Concept ID: C0022346
- Finding: Sign or Symptom
Abnormality of the digestive system
- Poor suck
Poor suck
- MedGen UID: 324693
- Concept ID: C1837142
- Finding: Finding
Abnormality of the digestive system
- Cholestasis
- Abnormality of the eye
- Brushfield spots
Brushfield spots
- MedGen UID: 266270
- Concept ID: C1303007
- Finding: Finding
Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Opacification of the corneal stroma
Opacification of the corneal stroma
- MedGen UID: 602191
- Concept ID: C0423250
- Finding: Finding
Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic nerve dysplasia
Optic nerve dysplasia
- MedGen UID: 390938
- Concept ID: C2676026
- Finding: Finding
Abnormality of the eye
- Pendular nystagmus
Pendular nystagmus
- MedGen UID: 78770
- Concept ID: C0271388
- Finding: Disease or Syndrome
Abnormality of the eye
- Pigmentary retinopathy
Pigmentary retinopathy
- MedGen UID: 1643295
- Concept ID: C4551715
- Finding: Disease or Syndrome
Abnormality of the eye
- Rod-cone dystrophy
Rod-cone dystrophy
- MedGen UID: 1632921
- Concept ID: C4551714
- Finding: Disease or Syndrome
Abnormality of the eye
- Brushfield spots
- Abnormality of the genitourinary system
- Clitoral hypertrophy
Clitoral hypertrophy
- MedGen UID: 57848
- Concept ID: C0156394
- Finding: Finding
Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Hypospadias
Hypospadias
- MedGen UID: 163083
- Concept ID: C0848558
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Polycystic kidney disease
Polycystic kidney disease
- MedGen UID: 9639
- Concept ID: C0022680
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal cortical microcysts
Renal cortical microcysts
- MedGen UID: 356391
- Concept ID: C1865877
- Finding: Finding
Abnormality of the genitourinary system
- Renal cyst
Renal cyst
- MedGen UID: 854361
- Concept ID: C3887499
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Clitoral hypertrophy
- Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Splenomegaly
- Abnormality of the integument
- Small nail
Small nail
- MedGen UID: 537942
- Concept ID: C0263523
- Finding: Finding
Abnormality of the integument
- Small nail
- Abnormality of the musculoskeletal system
- Camptodactyly
Camptodactyly
- MedGen UID: 195780
- Concept ID: C0685409
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Epiphyseal stippling
Epiphyseal stippling
- MedGen UID: 349104
- Concept ID: C1859126
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Large fontanelles
Large fontanelles
- MedGen UID: 105329
- Concept ID: C0456132
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Persistent open anterior fontanelle
Persistent open anterior fontanelle
- MedGen UID: 376607
- Concept ID: C1849537
- Finding: Finding
Abnormality of the musculoskeletal system
- Stippled chondral calcification
Stippled chondral calcification
- MedGen UID: 871201
- Concept ID: C4025679
- Finding: Finding
Abnormality of the musculoskeletal system
- Wide anterior fontanel
Wide anterior fontanel
- MedGen UID: 400926
- Concept ID: C1866134
- Finding: Finding
Abnormality of the musculoskeletal system
- Camptodactyly
- Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Athetosis
Athetosis
- MedGen UID: 2115
- Concept ID: C0004158
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Cerebellar vermis atrophy
Cerebellar vermis atrophy
- MedGen UID: 149271
- Concept ID: C0742028
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Colpocephaly
Colpocephaly
- MedGen UID: 98131
- Concept ID: C0431384
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Corpus callosum, agenesis of
Corpus callosum, agenesis of
- MedGen UID: 104498
- Concept ID: C0175754
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Generalized-onset seizure
Generalized-onset seizure
- MedGen UID: 115963
- Concept ID: C0234533
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Lethargy
Lethargy
- MedGen UID: 7310
- Concept ID: C0023380
- Finding: Sign or Symptom
Abnormality of the nervous system
- Macrogyria
Macrogyria
- MedGen UID: 120579
- Concept ID: C0266483
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Polymicrogyria
Polymicrogyria
- MedGen UID: 78605
- Concept ID: C0266464
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Vegetative state
Vegetative state
- MedGen UID: 182977
- Concept ID: C0917808
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Areflexia
- Ear malformation
- Abnormal helix morphology
Abnormal helix morphology
- MedGen UID: 344782
- Concept ID: C1856660
- Finding: Anatomical Abnormality
Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Abnormal helix morphology
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Small for gestational age
Small for gestational age
- MedGen UID: 65920
- Concept ID: C0235991
- Finding: Finding
Growth abnormality
- Failure to thrive
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